ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2672A>G (p.Asn891Ser) (rs1060503203)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475479 SCV000552297 uncertain significance Tuberous sclerosis 1 2018-10-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 891 of the TSC1 protein (p.Asn891Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC1-related disease. ClinVar contains an entry for this variant (Variation ID: 411235). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000829005 SCV000970715 likely benign not provided 2017-08-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV001016277 SCV001177215 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes)

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